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COMP Gene

protein-coding   GIFtS: 70
GCID: GC19M018894

Cartilage Oligomeric Matrix Protein

(Previous names: cartilage oligomeric matrix protein (pseudoachondroplasia,...)
(Previous symbols: PSACH, EDM1, EPD1)
  See COMP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cartilage Oligomeric Matrix Protein1 2     TSP52 3
EDM11 2 5     MED2 5
PSACH1 2 5     THBS52
EPD11 2     Cartilage Oligomeric Matrix Protein(Pseudoachondroplasia, Epiphyseal
Dysplasia 1, Multiple)2
Cartilage Oligomeric Matrix Protein (Pseudoachondroplasia, Epiphyseal
Dysplasia 1, Multiple)1 2
     Pseudoachondroplasia (Epiphyseal Dysplasia 1, Multiple)2
thrombospondin-51 2     Thrombospondin-53

External Ids:    HGNC: 22271   Entrez Gene: 13112   Ensembl: ENSG000001056647   OMIM: 6003105   UniProtKB: P497473   

Export aliases for COMP gene to outside databases

Previous GC identifers: GC19M019387 GC19M019285 GC19M018738 GC19M018754 GC19M018458


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for COMP Gene:
The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five
identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains.
Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM
proteins such as collagen appears to depend on divalent cations. Mutations can cause the osteochondrodysplasias
pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). (provided by RefSeq, Jul 2008)

GeneCards Summary for COMP Gene:
COMP (cartilage oligomeric matrix protein) is a protein-coding gene. Diseases associated with COMP include multiple epiphyseal dysplasia 1, and hemophilic arthropathy. GO annotations related to this gene include extracellular matrix structural constituent and calcium ion binding. An important paralog of this gene is THBS1.

UniProtKB/Swiss-Prot: COMP_HUMAN, P49747
Function: May play a role in the structural integrity of cartilage via its interaction with other extracellular
matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the
cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the
pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed
cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival
proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs)
contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of
VSMCs by interacting with ITGA7 (By similarity)

Gene Wiki entry for COMP (Cartilage oligomeric matrix protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the COMP gene promoter:
         Sp1   p300   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOMP promoter sequence
   Search Chromatin IP Primers for COMP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COMP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.1   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.1

COMP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COMP gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M018894:  view genomic region     (about GC identifiers)

Start:
18,893,583 bp from pter      End:
18,902,123 bp from pter
Size:
8,541 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: COMP_HUMAN, P49747 (See protein sequence)
Recommended Name: Cartilage oligomeric matrix protein precursor  
Size: 757 amino acids; 82860 Da
Cofactor: Binds 11-14 calcium ions per subunit
Subunit: Pentamer; disulfide-linked. Exists in a more compact conformation in the presence of calcium and shows a
more extended conformation in the absence of calcium. Interacts with ITGB3, ITGA5 and FN1. Binding to FN1
requires the presence of divalent cations (Ca(2+), Mg(2+) or Mn(2+)). The greatest amount of binding is seen in
the presence of Mn(2+). Interacts with MATN1, MATN3, MATN4 and ACAN. Binds heparin, heparan sulfate and
chondroitin sulfate. EDTA dimishes significantly its binding to ACAN and abolishes its binding to MATN3, MATN4
and chondroitin sulfate. Interacts with collagen I, II and IX, and interaction with these collagens is dependent
on the presence of zinc ions. Interacts with ADAMTS12. Interacts with ITGA7 (By similarity)
Developmental stage: Present during the earliest stages of limb maturation and is later found in regions where the
joints develop
Sequence caution: Sequence=AAB86501.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for COMP:
3FBY (3D)    
Secondary accessions: O14592 Q16388 Q16389 Q2NL86 Q8N4T2

Explore the universe of human proteins at neXtProt for COMP: NX_P49747

Explore proteomics data for COMP at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn121, Asn742
  • Modification sites at PhosphoSitePlus

  • See COMP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000086.2  
    ENSEMBL proteins: 
     ENSP00000439156   ENSP00000222271   ENSP00000403792  
    Reactome Protein details: P49747

    COMP Human Recombinant Protein Products:

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    Novus Biologicals COMP Lysate
    Sino Biological Recombinant Protein for COMP
    Sino Biological Cell Lysate for COMP
    ProSpec Recombinant Protein for COMP
    Cloud-Clone Corp. Proteins for COMP

     
    Search eBioscience for Proteins for COMP 

     
    antibodies-online proteins for COMP (16 products) 

     
    antibodies-online peptides for COMP

    COMP Antibody Products:

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    antibodies-online antibodies for COMP (79 products) 

    COMP Assay Products:

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    Cloud-Clone Corp. ELISAs for COMP
    Cloud-Clone Corp. CLIAs for COMP
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    antibodies-online kits for COMP (38 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 12):
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR018097 EGF_Ca-bd_CS
     IPR008859 Thrombospondin_C
     IPR003367 Thrombospondin_3-like_rpt

    Graphical View of Domain Structure for InterPro Entry P49747

    ProtoNet protein and cluster: P49747

    2 Blocks protein domains:
    IPB001881 EGF-like calcium-binding
    IPB008859 Thrombospondin


    UniProtKB/Swiss-Prot: COMP_HUMAN, P49747
    Domain: The cell attachment motif mediates the attachment to chondrocytes. It mediates the induction of both the
    IAP family of survival proteins and the antiapoptotic response
    Domain: The TSP C-terminal domain mediates interaction with FN1 and ACAN
    Domain: Each of the eight TSP type-3 repeats binds two calcium ions. The TSP C-terminal domain binds three calcium
    ions
    Similarity: Belongs to the thrombospondin family
    Similarity: Contains 4 EGF-like domains
    Similarity: Contains 1 TSP C-terminal (TSPC) domain
    Similarity: Contains 8 TSP type-3 repeats


    Find genes that share domains with COMP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COMP_HUMAN, P49747
    Function: May play a role in the structural integrity of cartilage via its interaction with other extracellular
    matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the
    cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the
    pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed
    cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival
    proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs)
    contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of
    VSMCs by interacting with ITGA7 (By similarity)

         Genatlas biochemistry entry for COMP:
    cartilage oligomeric matrix glycoprotein (524kDa),cell adhesion molecule,thrombospondin family

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI18485748
    GO:0005201extracellular matrix structural constituent TAS7713493
    GO:0005509calcium ion binding IDA10852928
    GO:0005515protein binding IPI12225811
    GO:0005518collagen binding IDA11084047
         
    Find genes that share ontologies with COMP           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for COMP:
     Increased gamma-H2AX phosphory 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Comp):
     behavior/neurological  growth/size/body  immune system  limbs/digits/tail  muscle 
     normal  skeleton 

    Find genes that share phenotypes with COMP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Comptm1Aol for COMP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COMP
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COMP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COMP

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate COMP:
    hsa-miR-185*
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    Inhib. RNA
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: COMP (NM_000095)
    Sino Biological Human cDNA Clone for COMP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COMP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COMP
    Addgene plasmids for COMP 

    Cell Line
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    ESI BIO PureStem Progenitors for COMP: 
    PureStem 4D20.8, NCr-fac Progenitor, PureStem 7PEND24, NCr-fac & Meso-prx Progenitor,
    PureStem 7SMOO32, NCr-fac & Meso Progenitor
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COMP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COMP_HUMAN, P49747: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum2
    lysosome1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IDA--
    GO:0031012colocalizes with extracellular matrix IDA--

    Find genes that share ontologies with COMP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for COMP About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    2Degradation of the extracellular matrix
    Extracellular matrix organization0.34
    3PI3K-Akt signaling pathway
    PI3K-Akt signaling pathway
    4Phagosome
    Phagosome
    5Malaria
    Malaria


    Find genes that share SuperPaths with COMP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for COMP
        Articular Cartilage Extracellular Matrix


    1 BioSystems Pathway for COMP
        Focal Adhesion


    2 Reactome Pathways for COMP
        ECM proteoglycans
    Integrin cell surface interactions


    5 Kegg Pathways  (Kegg details for COMP):
        Phagosome
    PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Malaria

        Pathway & Disease-focused RT2 Profiler PCR Arrays including COMP: 
              Osteogenesis in human mouse rat
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for COMP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for COMP (P497471, 3 ENSP000002222714) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FN1P027513, ENSP000003468394I2D: score=1 STRING: ENSP00000346839
    COL2A1P024583, ENSP000003698894I2D: score=1 STRING: ENSP00000369889
    COL9A1P208493, ENSP000003497904I2D: score=1 STRING: ENSP00000349790
    ADAMTS12P583971EBI-2531022,EBI-9028051
    CD36ENSP000003081654STRING: ENSP00000308165
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS7670472
    GO:0003417growth plate cartilage development IEA--
    GO:0006915apoptotic process IEA--
    GO:0007155cell adhesion IEA--
    GO:0009887organ morphogenesis TAS7713493

    Find genes that share ontologies with COMP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COMP

    1 DrugBank Compound for COMP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Calcium-- --target--17588949

    Selected Novoseek inferred chemical compound relationships for COMP gene (see all 36)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    keratan sulfate 64.4 26 9920012 (3), 17855425 (2), 11840444 (2), 15990991 (2) (see all 8)
    alginate 49.2 1 11748585 (1)
    glycosaminoglycan 45.3 6 19929469 (1), 16319098 (1), 19276170 (1)
    hyaluronic acid 43.2 18 16870091 (5), 19404937 (1), 12734904 (1), 16396978 (1) (see all 7)
    pentosidine 40.8 5 15023379 (2), 17298211 (1), 15897309 (1)
    deoxypyridinoline 38 7 10806045 (1), 16899502 (1), 12734904 (1), 19358841 (1)
    pyridinoline 36.9 8 10806045 (1), 16899502 (1), 17907159 (1), 12734904 (1)
    tgf beta1 33.4 11 16868970 (4), 9627009 (2), 18408251 (2)
    dermatan sulfate 32 3 17532798 (1), 16761970 (1)
    chondroitin sulfate 28 8 19217557 (1)



    Find genes that share compounds with COMP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for COMP gene: 
    NM_000095.2  

    Unigene Cluster for COMP:

    Cartilage oligomeric matrix protein
    Hs.1584  [show with all ESTs]
    Unigene Representative Sequence: BC033676
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000542601(uc002nkd.3) ENST00000222271(uc002nke.3 uc010xqj.2)
    ENST00000425807 ENST00000546510
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      QuantiFast Probe-based Assays in human, mouse, rat COMP

    Additional mRNA sequence: 

    AB086984.1 AK074508.1 AK223216.1 AK290595.1 AK296586.1 AK297798.1 AK297814.1 BC033676.1 
    BC110847.1 BC125092.1 L32137.1 

    7 DOTS entries:

    DT.100042006  DT.100042013  DT.121465335  DT.121465312  DT.97847816  DT.100823215  DT.97847817 

    Selected AceView cDNA sequences (see all 324):

    BQ007673 CB216257 BQ180997 CR621154 CA413455 CD519980 AW451635 NM_000095 
    AU120397 CA414552 H13980 AU120554 BC033676 BQ181237 BG924834 CB216134 
    AI582879 BQ181616 BG900177 CA419213 BG899473 AW068338 BG899058 BQ181929 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for COMP    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
    SP1:                                                                                      -                                                         
    SP2:                                                                                      -                                                         
    SP3:                                -     -                                                                                                         
    SP4:                                      -     -     -                                                                                             
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for COMP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    COMP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGGGTGGCC
    COMP Expression
    About this image


    COMP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 41 entries
             Prechondrocytes Autopod Epiphyseal End
             Mandibular Condyle
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 37 entries
             Chondrocytes Synchondroses
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+BMP4-induced E15 cells
     
     Head Mesenchyme (Muscoskeletal System)
             Chondrocytes Branchial Arch 2
    COMP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COMP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1584

    UniProtKB/Swiss-Prot: COMP_HUMAN, P49747
    Tissue specificity: Abundantly expressed in the chondrocyte extracellular matrix, and is also found in bone,
    tendon, ligament and synovium and blood vessels. Increased amounts are produced during late stages of
    osteoarthritis in the area adjacent to the main defect

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for COMP gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Comp1 , 5 cartilage oligomeric matrix protein1, 5 84.53(n)1
    91.22(a)1
      8 (34.15 cM)5
    128451  NM_016685.21  NP_057894.21 
     703735485 
    chicken
    (Gallus gallus)
    Aves COMP1 cartilage oligomeric matrix protein 70.35(n)
    76.16(a)
      420120  XM_418238.4  XP_418238.2 
    lizard
    (Anolis carolinensis)
    Reptilia COMP6
    cartilage oligomeric matrix protein
    77(a)
    1 ↔ 1
    GL344783.1(3913-20034)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia comp1 cartilage oligomeric matrix protein 65.65(n)
    72.54(a)
      100494714  XM_002940205.2  XP_002940251.2 
    zebrafish
    (Danio rerio)
    Actinopterygii im:71543321 im:7154332 66.81(n)
    70.78(a)
      100318854  XM_002663706.3  XP_002663752.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tsp1 , 3 cell adhesion molecule3
    Thrombospondin1
    50(a)3
    56.76(n)1
    52.02(a)1
      339411  NM_078771.31  NP_523495.21 


    ENSEMBL Gene Tree for COMP (if available)
    TreeFam Gene Tree for COMP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COMP gene
    THBS12  THBS42  THBS32  THBS22  
    5 SIMAP similar genes for COMP using alignment to 4 protein entries:     COMP_HUMAN (see all proteins):
    THBS3    THBS4    DKFZp686G02190    THBS1    THBS2

    Find genes that share paralogs with COMP           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COMP (see all 404)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289363681,2,,4
    CMultiple epiphyseal dysplasia 1 (EDM1)4 pathogenic118827607(-) CCATGA/C/TGGGGT 2 R W mis1 ese31NA 4496
    rs289366691,2,,4
    CPseudoachondroplasia (PSACH)4 pathogenic118830514(-) CGACGA/GCAATG 2 D G mis1 ese30--------
    rs289366681,2,,4
    CMultiple epiphyseal dysplasia 1 (EDM1)4 pathogenic118830574(-) GCCTAA/GCAGTG 2 N S mis10--------
    VAR_0171034
    Pseudoachondroplasia (PSACH)4--see VAR_0171032 G D mis40--------
    VAR_0668124
    Multiple epiphyseal dysplasia 1 (EDM1)4--see VAR_0668122 N K mis40--------
    VAR_0668264
    Multiple epiphyseal dysplasia 1 (EDM1)4--see VAR_0668262 R P mis40--------
    VAR_0668194
    Pseudoachondroplasia (PSACH)4--see VAR_0668192 D H mis40--------
    VAR_0076394
    Pseudoachondroplasia (PSACH)4--see VAR_0076392 D N mis40--------
    VAR_0076374
    Pseudoachondroplasia (PSACH)4--see VAR_0076372 D G mis40--------
    VAR_0262404
    Multiple epiphyseal dysplasia 1 (EDM1)4--see VAR_0262402 D A mis40--------

    HapMap Linkage Disequilibrium report for COMP (18893583 - 18902123 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for COMP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833777CNV Loss17160897
    nsv911295CNV Loss21882294
    nsv911296CNV Loss21882294
    nsv911282CNV Loss21882294
    dgv3786n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): COMP
    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for COMP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600310   
    OMIM disorders: 177170  132400  
    UniProtKB/Swiss-Prot: COMP_HUMAN, P49747
  • Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]: A generalized skeletal dysplasia associated with
    significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs
    and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal
    ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly
    categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by
    shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle,
    hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that
    are normal and stature that is normal or near-normal. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Pseudoachondroplasia (PSACH) [MIM:177170]: A skeletal dysplasia usually manifesting in the second year of
    life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs,
    brachydactyly, ligamentous laxity, and degenerative joint disease. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 15 diseases for COMP:    
    About MalaCards
    multiple epiphyseal dysplasia 1    hemophilic arthropathy    relapsing polychondritis    pseudoachondroplasia
    multiple epiphyseal dysplasia    spondyloepiphyseal dysplasia congenita    langer mesomelic dysplasia    thanatophoric dysplasia
    tendinitis    biotinidase deficiency    tendinopathy    diastrophic dysplasia
    multiple epiphyseal dysplasia, dominant    arthropathy    spondyloepimetaphyseal dysplasia

    8 diseases from the University of Copenhagen DISEASES database for COMP:
    Pseudoachondroplasia     Multiple epiphyseal dysplasia     Osteoarthritis     Rheumatoid arthritis
    Diastrophic dysplasia     Tendinitis     Synovitis     Spondyloepimetaphyseal dysplasia

    Find genes that share disorders with COMP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for COMP gene (see all 44)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    psach 98.3 317 11691584 (5), 12768438 (5), 15266613 (5), 17570134 (5) (see all 79)
    multiple epiphyseal dysplasia 97.6 91 15749701 (2), 15880723 (2), 9184241 (2), 10405447 (2) (see all 49)
    skeletal dysplasia 85.4 39 18855621 (2), 9923655 (1), 17588960 (1), 11470401 (1) (see all 23)
    osteoarthritis 83.1 87 17124839 (5), 8311563 (5), 19177799 (3), 9059144 (2) (see all 44)
    osteochondrodysplasias 80.4 6 11008738 (1), 17579668 (1), 9756911 (1)
    osteoarthritis knee 79.8 35 15940561 (2), 16707535 (2), 17657676 (2), 10555031 (1) (see all 17)
    diastrophic dysplasia 77.4 5 8030664 (1), 11008738 (1), 8791509 (1), 8879993 (1)
    rheumatoid arthritis 71.3 75 12823852 (3), 16707535 (3), 16485108 (2), 15940561 (2) (see all 33)
    bone dysplasias 65.2 3 11087755 (2)
    short stature 64.9 9 15552564 (2), 11691584 (1), 12483304 (1), 20033473 (1) (see all 5)

    GeneTests: COMP
    GeneReviews: COMP
    Genetic Association Database (GAD): COMP
    Human Genome Epidemiology (HuGE) Navigator: COMP (9 documents)

    Export disorders for COMP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for COMP gene, integrated from 10 sources (see all 387):
    (articles sorted by number of sources associating them with COMP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of human and mouse cartilage oligomeric matrix protein. (PubMed id 7713493)1, 2, 3, 9 Newton G.... Lawler J. (Genomics 1994)
    2. Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan. (PubMed id 17588949)1, 2, 7 Chen F.-H.... Lawler J. (J. Biol. Chem. 2007)
    3. Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. (PubMed id 15266613)1, 4, 9 Mabuchi A....Ikegawa S. (Am. J. Med. Genet. A 2004)
    4. Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. (PubMed id 15075323)1, 2, 9 Mann H.H.... Wagener R. (J. Biol. Chem. 2004)
    5. Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changes. (PubMed id 10852928)1, 2, 9 Chen H.... Lawler J. (J. Biol. Chem. 2000)
    6. Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints. (PubMed id 11501943)1, 4, 9 Mabuchi A....Ikegawa S. (J. Hum. Genet. 2001)
    7. Cartilage oligomeric matrix protein protects cells against death by elevating members of the IAP family of survival proteins. (PubMed id 17993464)1, 2, 9 Gagarina V.... Hall D.J. (J. Biol. Chem. 2008)
    8. Cartilage oligomeric matrix protein is involved in human limb development and in the pathogenesis of osteoarthritis. (PubMed id 16542502)1, 2, 9 Koelling S.... Miosge N. (Arthritis Res. Ther. 2006)
    9. Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX. (PubMed id 11084047)1, 2, 9 Thur J.... Maurer P. (J. Biol. Chem. 2001)
    10. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. (PubMed id 12483304)1, 4, 9 Mabuchi A....Ikegawa S. (Hum. Genet. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1311 HGNC: 2227 AceView: COMP Ensembl:ENSG00000105664 euGenes: HUgn1311
    ECgene: COMP Kegg: 1311 H-InvDB: COMP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for COMP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COMP[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COMP gene:
    Search GeneIP for patents involving COMP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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